Doencas do Motoneuronio Flashcards
Como é o manejo da esclerose lateral amiotrófica?
(1) In contrast to ALS, several of the disorders that bear some clinical resemblance to ALS are treatable. For this reason, a careful search for causes of secondary motor neuron disease is warranted
(2) The drug riluzole (100 mg/d) was approved for ALS because it produces a modest lengthening of survival. In one trial, the survival rate at 18 months with riluzole was similar to placebo at 15 months. Riluzole is generally well tolerated; nausea, dizziness, weight loss, and elevated liver enzymes occur occasionally.
(3) Foot-drop splints facilitate ambulation by obviating the need for excessive hip flexion and by preventing tripping on a floppy foot. Finger extension splints can potentiate grip.
(4) Respiratory support may be life- sustaining. For patients electing against long-term ventilation by tracheostomy, positive-pressure ventilation by mouth or nose provides transient (several weeks) relief from hypercarbia and hypoxia. Also extremely beneficial for some patients is a respiratory device (Cough Assist Device) that produces an artificial cough. This is highly effective in clearing airways and preventing aspiration pneumonia.
(5) When bulbar disease prevents normal chewing and swallowing, gastrostomy is uniformly helpful, restoring normal nutrition and hydration.
(6) Fortunately, an increasing variety of speech synthesizers are now available to augment speech when there is advanced bulbar palsy. These facilitate oral communication and may be effective for telephone use.
(7) Several websites provide valuable information on ALS including those offered by the Muscular Dystrophy Association (www.mdausa.org), the Amyotrophic Lateral Sclerosis Association (www.alsa.org), and the World Federation of Neurology and the Neuromuscular Unit at Washington University in St. Louis (www.neuro.wustl.edu/neuromuscular).
Como fazer o diagnóstico de ELA?
A committee of the World Federation of Neurology has established diagnostic guidelines for ALS. Essential for the diagnosis is simultaneous upper and lower motor neuron involvement with progressive weakness, and the exclusion of all alternative diagnoses. The disorder is ranked as “definite” ALS when three or four of the following are involved: bulbar, cervical, thoracic, and lumbosacral motor neurons. When two sites are involved, the diagnosis is “probable,” and when only one site is implicated, the diagnosis is “possible.” An exception is made for those who have progressive upper and lower motor neuron signs at only one site and a mutation in the gene encoding superoxide dismutase (SOD1; see later).
This is particularly true in cases that are atypical by virtue of (1) restriction to either upper or lower motor neurons, (2) involvement of neurons other than motor neurons (must have absence of pain or of sensory changes and normal bowel and bladder function), and (3) evidence of motor neuronal conduction block on electrophysiologic testing, normal MRI studies of the spine and normal cerebrospinal fluid (CSF) all favor ALS.
Etiology of motor neuuron disorders: MRI scan of head (including foramen magnum and cervical spine); CSF exam; culture Lyme titer; Anti-viral antibody HTLV-1 titers; 24-h urine for heavy metals Serum lead level; Complete blood count - inclusive bone marrow biopsy, Sedimentation rate Total protein Anti-GM1 antibodies Anti-Hu antibody; tine chemistries including calciuma PTH Thyroid functiona Vitamin B12, vitamin E, folatea Serum zinc, coppera 24-h stool fat, carotene, prothrombin time Fasting lactate, pyruvate, ammonia Consider mtDNA, fasting blood sugar, routine chemistries including calcium, Lipid electrophoresis Urine and serum amino acids CSF amino acids WBC DNA for mutational analysis
